Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R31 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mannosidosis alpha- types I and II |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes LYSOSOMAL ALPHA-MANNOSIDOSIS 248500 |
Green in HydrocephalusR-numbers: R86 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mannosidosis, alpha-, types I and II, OMIM:248500 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mannosidosis, alpha-, types I and II, 248500, LYSOSOMAL ALPHA-MANNOSIDOSIS (AM) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mannosidosis, alpha-, types I and II |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mannosidosis, alpha-, types I and II OMIM:248500, alpha-mannosidosis MONDO:0009561 |
R-numbers: R100 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mannosidosis, alpha-, types I and II, OMIM:248500 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mannosidosis, alpha-, types I and II 248500 |